Tag Archive: whole genome sequencing

May 31 2018

Drew Norton and Family Drive Leukodystrophy Research Forward

It’s been a big year for 8-year-old Drew Norton and his family.

Clinicians at the Children’s Hospital of Philadelphia Leukodystrophy Center diagnosed Drew with a rare genetic disorder nearly 12 months ago. Since then, Drew and his parents, Christy and Jason, have embarked on what they now call an “amazing run.” After years of misdiagnoses, they finally learned that Drew’s difficulties with movement and speech were caused by a specific leukodystrophy, a group of disorders that affects white matter in the brain. Though the Nortons are still learning more about the disorder and how best to manage it, the diagnosis has served as a baseline for a series of victories, both big and small.

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